Canonical Allele Identifier: CA16042876
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 373697
ClinVar RCV Id: RCV000414363
dbSNP Id: rs1057518554
MyVariant Identifiers: chr15:g.48789502del (hg19) chr15:g.48497305del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48497306del , CM000677.2:g.48497306del GRCh38
NC_000015.9:g.48789503del , CM000677.1:g.48789503del GRCh37
NC_000015.8:g.46576795del NCBI36
NG_008805.2:g.153484del , LRG_778:g.153484del

Transcript Alleles

HGVS Amino-acid change
ENST00000559133.6:c.2254del ENSP00000453958.2:p.Ser752GlnfsTer20
ENST00000674301.2:c.2254del ENSP00000501333.2:p.Ser752GlnfsTer20
ENST00000684448.1:n.928del
ENST00000316623.10:c.2254del MANE Select ENSP00000325527.5:p.Ser752GlnfsTer20
ENST00000316623.9:c.2254del ENSP00000325527.5:p.Ser752GlnfsTer20
ENST00000537463.6:c.637-22655del ENSP00000440294.2:n.637-22655del
NM_000138.4:c.2254del , LRG_778t1:c.2254del NP_000129.3:p.Ser752GlnfsTer20
NM_000138.5:c.2254del MANE Select NP_000129.3:p.Ser752GlnfsTer20
Search 100 bp 5'
Search 100 bp 3'